Associated Papers
Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum.
Pérez-Vidarte F et al.
Annals of Clinical and Translational Neurology, 2025
The Genetic Architecture of Congenital Heart Disease in Neonatal Intensive Care Unit Patients-The Experience of University Medical Centre, Ljubljana.
Peterlin A et al.
Life (basel, Switzerland), 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Gunsel AS et al.
Genes, 2023
Combining Gene Mutation with Expression of Candidate Genes to Improve Diagnosis of Escobar Syndrome.
Najjar D et al.
Genes, 2022
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
33889545 (PubMed )
Supplement: Table_5.XLSX › Sheet1
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
Bayram Y et al.
The Journal of Clinical Investigation, 2016
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.
Chong JX et al.
American Journal of Human Genetics, 2015
Neuromotor synapses in Escobar syndrome.
Robinson KG et al.
American Journal of Medical Genetics. Part A, 2013
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